ABSTRACT
PURPOSE: To describe the frequency, type, and perceived effectiveness of physical therapy interventions for children with Friedreich ataxia (FA); identify barriers to therapy; and solicit advice from parents. METHOD: Parents of 30 children with FA participated in semistructured interviews. Qualitative and quantitative methods were used to analyze the data. RESULTS: Sixty-seven percent of children received direct physical therapy service. Stretching and strengthening exercises were used most frequently, and their perceived usefulness increased as the children aged. Seventy-three percent received home exercise programs; 9% implemented these consistently. External barriers included a lack of expert providers and limited reimbursement. Internal barriers included limited time and energy, lack of awareness of services, and children's preferences not to be treated differently. Parents advised therapists to become experts, advocates, and use approaches based on family and child preferences. CONCLUSIONS: Outcomes provide a starting point for developing further research, education, and effective interventions for children with FA.
Subject(s)
Exercise Therapy/methods , Exercise Therapy/psychology , Friedreich Ataxia/rehabilitation , Physical Therapy Specialty/methods , Adolescent , Child , Disabled Children/rehabilitation , Female , Health Services Accessibility , Humans , Interviews as Topic , Male , Motivation , Patient Preference , Professional-Family Relations , Time FactorsABSTRACT
Members of the heat shock factor (HSF) family are evolutionarily conserved regulators that share a highly homologous DNA-binding domain. In mammals, HSF1 is the main factor controlling the stress-inducible expression of Hsp genes while the functions of HSF2 and HSF4 are less clear. Based on its developmental profile of expression, it was hypothesized that HSF2 may play an essential role in brain and heart development, spermatogenesis, and erythroid differentiation. To directly assess this hypothesis and better understand the underlying mechanisms that require HSF2, we generated Hsf2 knockout mice. Here, we report that Hsf2(-/-) mice are viable and fertile and exhibit normal life span and behavioral functions. We conclude that HSF2, most probably because its physiological roles are integrated into a redundant network of gene regulation and function, is dispensable for normal development, fertility, and postnatal psychomotor function.
